Fig. 2
From: Mapping genetic variants for nonsense-mediated mRNA decay regulation across human tissues
Identification of pNMD-QTLs and dNMD-QTLs. a Examples of a pNMD-QTL and a dNMD-QTL. A variant is identified as a pNMD-QTL if the allelic effect size is in opposite directions for NMD-targeted transcripts and non-NMD transcripts. A variant is identified as a dNMD-QTL if the association is only observed in NMD-targeted transcripts. b Precision-recall curves for identifying pNMD-QTLs and dNMD-QTLs. The effect size was simulated between 0.1 and 0.15. c The number of pNMD-QTLs and dNMD-QTLs detected for each of the 48 tissues. The shaded areas represent the number of variants also identified as eQTLs in GTEx. The color scheme used for tissues is the same as the one used in GTEx. d The fractions of positive effect sizes of pNMD-QTLs and dNMD-QTLs for NMD-targeted transcripts in each tissue